Joel Hirschhorn

Joel Hirschhorn serves as the Concordia Professor of Pediatrics and Professor of Genetics at Harvard Medical School, and Chief of the Division of Endocrinology at Boston Children's Hospital. He holds an MD and PhD from Harvard University (1986–1995) and completed residencies in Pediatrics and Pediatric Endocrinology at Boston Children's Hospital. His research focuses on genetic and genomic determinants of growth, obesity, diabetes, and endocrine disorders, with a particular emphasis on identifying genetic variants influencing human height and body composition.

Dr. Hirschhorn leads the Precision Medicine Service within the Division of Endocrinology, integrating genomic data into clinical care. His work spans genome-wide association studies (GWAS), functional genomics, and population genetics, with over 300 peer-reviewed publications. Key research areas include: (1) genetic architecture of height, (2) polygenic risk scores for chronic diseases, (3) mechanisms linking genetic variants to obesity and diabetes, and (4) applications of CRISPR screening in skeletal biology.

His publications highlight discoveries in diabetes genetics, pediatric endocrinology, and precision medicine. Notable contributions include identifying novel loci for diabetic kidney disease, characterizing genetic contributors to constitutional delay of puberty, and developing frameworks for prioritizing genes in GWAS loci. Dr. Hirschhorn collaborates extensively with international consortia to advance understanding of complex traits and their clinical implications.